Variant report

Variant	rs56988045
Chromosome Location	chr4:57252114-57252115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr4:57252095-57252158	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:57245776..57248590-chr4:57250681..57253317,2	MCF-7	breast:
2	chr4:57251780..57255283-chr4:57300557..57304376,5	MCF-7	breast:
3	chr4:57250870..57256510-chr4:57298204..57303491,14	K562	blood:
4	chr4:57252113..57256281-chr4:57265528..57268374,5	MCF-7	breast:
5	chr4:57251940..57255035-chr4:57332077..57334754,4	MCF-7	breast:
6	chr4:57249593..57251737-chr4:57251842..57253742,2	K562	blood:
7	chr4:57251883..57253946-chr4:57396755..57399062,3	K562	blood:
8	chr4:57251518..57253690-chr4:57313439..57315337,2	K562	blood:
9	chr4:57252051..57253870-chr9:33289300..33291783,2	K562	blood:
10	chr4:57250870..57256080-chr4:57298204..57304153,16	K562	blood:

No data

Variant related genes	Relation type
AASDH	TF binding region
ENSG00000269921	TF binding region
ENSG00000157426	Chromatin interaction
ENSG00000086102	Chromatin interaction
ENSG00000128050	Chromatin interaction
ENSG00000249693	Chromatin interaction
ENSG00000128059	Chromatin interaction
ENSG00000174780	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10002045	1.00[AMR][1000 genomes]
rs28438730	1.00[AMR][1000 genomes]
rs35420817	1.00[AMR][1000 genomes]
rs56753336	1.00[AMR][1000 genomes]
rs57969097	1.00[AMR][1000 genomes]
rs58519345	0.88[AFR][1000 genomes]
rs59876036	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60691650	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6857233	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv829940	chr4:57072341-57262730	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57190600-57252400	Weak transcription	Colonic Mucosa	Colon
2	chr4:57202800-57252400	Weak transcription	NHDF-Ad	bronchial
3	chr4:57203000-57252600	Weak transcription	Right Ventricle	heart
4	chr4:57203400-57252400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:57204000-57252200	Weak transcription	NH-A	brain
6	chr4:57204200-57252200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:57207800-57253000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:57211800-57252200	Weak transcription	Fetal Heart	heart
9	chr4:57213400-57252200	Weak transcription	NHLF	lung
10	chr4:57214600-57252200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:57216000-57252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:57216000-57253000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:57223000-57253200	Weak transcription	Esophagus	oesophagus
14	chr4:57223200-57253200	Weak transcription	Gastric	stomach
15	chr4:57225000-57252200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:57227400-57252400	Weak transcription	NHEK	skin
17	chr4:57229800-57252400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:57229800-57252400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:57229800-57252400	Weak transcription	Brain Germinal Matrix	brain
20	chr4:57229800-57253000	Weak transcription	Ovary	ovary
21	chr4:57229800-57253200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:57229800-57253200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:57232800-57252400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:57232800-57252400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr4:57232800-57253000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:57235600-57252400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:57236400-57252200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:57236600-57252400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:57236600-57253000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:57236600-57253200	Weak transcription	Lung	lung
31	chr4:57236800-57253000	Weak transcription	Aorta	Aorta
32	chr4:57236800-57253000	Weak transcription	Left Ventricle	heart
33	chr4:57237000-57252400	Weak transcription	Osteobl	bone
34	chr4:57237000-57252600	Weak transcription	Fetal Stomach	stomach
35	chr4:57237200-57252400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:57237600-57252400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:57238400-57252400	Weak transcription	HUVEC	blood vessel
38	chr4:57238600-57252400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:57238600-57252400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr4:57239600-57252400	Weak transcription	HSMMtube	muscle
41	chr4:57239800-57252400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:57243800-57252400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:57243800-57252400	Weak transcription	HSMM	muscle
44	chr4:57244000-57252200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:57244600-57252200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:57244600-57252400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr4:57246200-57252400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:57246600-57252200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:57246800-57252200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr4:57247000-57252400	Weak transcription	Rectal Mucosa Donor 29	rectum

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